Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
3 associated genes
4 signs/symptoms
Epidermolysis bullosa simplex, Ogna type
Well-differentiated liposarcoma

PLEC CDK4
HMGA2
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
(0.63)
MDM2



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Well-differentiated liposarcoma
CDK4 HMGA2 MDM2



Epidermolysis bullosa simplex, Ogna type
Well-differentiated liposarcoma

Synonym(s):
- EBS-O

Synonym(s):
- ALT
- Atypical lipoma
- Atypical lipomatous tumor
- WDLS

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: C535962
External references:
No OMIM references
No MeSH references

Epidermolysis bullosa simplex, Ogna type
Well-differentiated liposarcoma

Very frequent
- Autosomal dominant inheritance
- Bruisability
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy



Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Functional anomalies of the kidney and the urinary tract
- Intestinal transit disorder